Biomedical subjects

B Dott

Publications and source records attributed to B Dott.

At least 55 records · Page 3Linked to original sources

PubMed1992

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin in sequence in three generations: a new inherited MCA syndrome?

We observed the combination of the Robin sequence with perodactyly (hypoplasia and/or agenesis of the distal phalanx of the toes) and cardiac arrhythmia (ventricular extrasystoles occurring as bigemini or multifocal tachycardia with syncopal episodes) in 6 relatives in 3 generations. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.

Abnormalities, Multiple↗

PubMed1992

Evaluation of prenatal diagnosis by a registry of congenital anomalies.

Prenatal diagnosis performed by fetal karyotype and ultrasound scan is now a routine part of antenatal care in many countries. How many fetal anomalies are actually detected by these procedures? We have used our registry of congenital malformations to answer this question. In our region, prenatal diagnosis was performed in 23.1 per cent of fetuses with a chromosomal aberration and in 20.1 per cent of fetuses with non-chromosomal anomalies. Only 6.9 per cent of the pregnancies with fetuses with non-chromosomal anomalies were terminated. The sensitivity of prenatal diagnosis by ultrasonographic examination was much lower for isolated malformations (fetuses with only one anomaly) than for multiple malformed children, 15.3 and 48.3 per cent respectively, chromosomal anomalies excluded.

Abnormalities, Multiple↗

PubMed1992

An epidemiologic study of environmental and genetic factors in congenital hydrocephalus.

Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.8%) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.7%) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4%) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p < 0.001). The weight of the placenta was lower than in the controls (p < 0.05). The pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).

Case-Control Studies↗

PubMed1992

Risk factors in limb reduction defects.

Risk factors were studied in 123 children with limb reduction defects (LRD) from 118,265 consecutive births of known outcome during the period from 1979 to 1987 in the area which is covered by our registry of congenital malformations. For each case a control was studied. The LRD was localised and classified according to the EUROCAT guide for the description and classification of limb defects. The prevalence of LRD was 1.04 per thousand: 82.9% of the babies were liveborn, 13.0% were late spontaneous abortion or stillborn and termination was performed in 4.0% of the cases. The proportion of males was 0.55. The most common malformations in the 51.2% of children who had at least one other anomaly than LRD were associated cardiac, digestive and renal anomalies. The pregnancy with limb anomalies was more often complicated by oligohydramnios, polyhydramnios and threatened abortion but there were no differences in parental characteristics. However, 9.7% of marriages were consanguineous (P less than 0.01) and the incidence of LRD in first-degree relatives of the children with LRD was high. First-degree relatives also had more non-limb malformations than did those of controls.

Abnormalities, Multiple↗

PubMed1992

Epidemiology of congenital eye malformations in 131,760 consecutive births.

The epidemiology of eye malformations was studied in the geographical area covered by the authors' registry of congenital malformations. For each of the 78 new cases studied during the period 1979 to 1988, more than 50 factors were compared in probands and in controls. The prevalence rate of congenital eye malformations was 7.5 per 10,000 with microphthalmia 1.8, anophthalmia 0.3, cataract 2.3 and coloboma 0.7 respectively. Sex ratio was 0.82. Prenatal diagnosis was performed in ten cases and three cases were induced abortions. The more common types of associated malformations in the 42 affected cases (53.8%) with at least one anomaly other than an eye malformation were clubfeet, microcephaly, hydrocephaly and facial dysmorphia. At birth infants with eye malformations and other malformations were smaller, weighed less and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with eye malformations were more often complicated by threatened abortion, oligoamnios and polyhydramnios. Mothers of children with congenital eye malformations took more often drugs during pregnancy than mothers of controls. Fathers of children with congenital eye malformations were more often exposed to occupational hazards than fathers of controls. There was a significant association between eye malformation and consanguinity of parents. First degree relatives of probands had more than three times the prevalence of non-eye malformations than controls. These results are of relevance to genetic counseling.

Anthropometry↗

PubMed1991

Study of 156 cases of polyhydramnios and congenital malformations in a series of 118,265 consecutive births.

Polyhydramnios associated with congenital anomalies was studied over nine years in 118,265 consecutive pregnancies. The prevalence of this association was 1.32% (156 cases). A case-control study allowed the examination of genetic and environmental factors for the origin of polyhydramnios associated with congenital malformations. Diagnosis of polyhydramnios associated with congenital malformations was performed prenatally in 41% of the cases; 16% of the infants were stillborn. Fifty-five percent of the cases had more than one malformation, 13.4% of them had a chromosomal aberration, and 32% had multiple malformations that do not constitute a syndrome. There was an increase of consanguinity in the parents of our patients. The incidence of polyhydramnios and congenital anomalies in first-degree relatives was 3.8%, and first-degree relatives had more malformations than the controls had (8.3% vs 3.2%). Our study demonstrated the low capacity of a general prenatal screening program because the diagnosis of malformations associated with polyhydramnios was made in only 41% of the cases and only six of 21 chromosomal abnormalities were diagnosed prenatally. We recommend the use of fetal chromosome analysis and careful ultrasonographic examination in every pregnancy complicated by polyhydramnios.

Chromosome Aberrations↗

PubMed1991

Epidemiological and genetic study in 207 cases of oral clefts in Alsace, north-eastern France.

The epidemiology of oral clefts was studied in the geographical area covered by our registry of congenital malformations. For each of the 207 new cases studied during the period 1979 to 1987, more than 50 factors were compared in probands and controls. The incidence of oral clefts was 1.75 per 1000, with cleft lip/palate (CL(P] 0.98 and cleft palate only (CP) 0.77 per 1000. A total of 8.2% of cleft cases were stillbirths and 5.3% were induced abortions. The more common types of associated malformations in the 76 affected cases (36.7%) with at least one anomaly other than oral cleft were neural tube defects and skeletal malformations. At birth, infants with oral clefts and other malformations were smaller, weighed less, and their head circumference was lower than in controls. Placental weight was also lower than in controls. Pregnancies with oral clefts were more often complicated by threatened abortion, polyhydramnios, and arterial hypertension. There was a significant association between clefting and consanguinity; heritability of CL(P) was 81% and first degree relatives of probands had more than three times the prevalence of noncleft malformations as controls. These results are of relevance to genetic counselling.

Abnormalities, Multiple↗

PubMed1991

[Congenital malformations in a series of 131,760 consecutive births during 10 years].

Registration of congenital malformations began in 1979 in the French department of Bas-Rhin. The results of the first 10 years of functioning of this register are presented after description of the objectives and methodology used. 131,760 consecutive births were analysed: 2.66% of infants presented with malformations. The most frequent malformations consisted of congenital heart defects (11.6%). The increase in incidence of congenital malformations was not the result of an absolute increase in malformations but to improvement of prenatal and postnatal diagnosis allowed by the technical progress in this field. In utero diagnosis of congenital malformations, especially of multiple malformations, was more and more often performed.

Chromosome Aberrations↗

PubMed1991

Are some multiple congenital anomalies with mental retardation (MCA/MR) the clinical expression of rare autosomal fragile sites?

A boy with MCA/MR and a fragile site (FS) at 8q22 opens the discussion of a possible association between a rare autosomal FS and an abnormal phenotype. The child was born after prenatal diagnosis of ureterohydronephrosis. He had facial dysmorphia and mental retardation (IQ = 40). The karyotype showed 8q22 FS in 12% of the cells obtained after addition of FUdR to the culture medium. No other etiologic factor was shown to be responsible for the MCA/MR syndrome. Several authors have reported a variety of neurodevelopmental abnormalities and mental retardation in individuals with rare FS expressed on chromosomes 2, 9, 10, 16 and 19. If rare FS predispose to phenotypic abnormalities what are the mechanisms?

Chromosome Aberrations↗

PubMed1990

Epidemiology of Down syndrome in 118,265 consecutive births.

The epidemiology of Down syndrome (DS) was studied in the area which is covered by our registry of congenital malformations. For each of the 139 new DS cases which were ascertained during the period 1979 to 1987 more than 50 factors were studied and compared to those from control infants. The prevalence of DS was 1.17%; 3.6% of the DS cases were stillbirths and 14.4% were induced abortions. Karyotypes were obtained in 137 cases of which all but 7 were 47, + 21, 4 were mosaics (2.8%), and 5 had translocations (3.6%). Interchromosomal effect was a question in 3 cases. The most common types of associated malformations were cardiac anomalies (44.6%) and intestinal atresia. We did not observe seasonality or time/space clusters in spite of the Chernobyl nuclear accident. No paternal age effect was demonstrated. In our material the first-born infants were at lower risk of DS than the later born. Five percent of the mothers of DS had 2 previous spontaneous abortions (controls 2.8%). At birth, the DS infants measured less and their head circumference was lower than in control infants. Weight of placenta was also lower than in control infants. In our material there were 7.9% of consanguineous marriages (P = .010). The pregnancies of the DS children were often complicated by threatened abortions; 6.4% of the mothers of the DS children were diabetic (P = .069). For all other factors studied no statistically significant difference with respect to controls could be demonstrated.

Abortion, Induced↗

PubMed1990

Risk factors in internal urinary system malformations.

Risk factors were studied in 370 children with internal urinary system (IUS) anomalies, coming from 105,374 consecutive births of known outcome. The incidence of IUS malformations was 3.51 per 1,000 births. Diagnosis was performed prenatally in 54.4% of patients. Two hundred and fifty-two patients had isolated IUS anomalies; 118 (31.8%) of the children had at least one non-urinary malformation. Fifty-five infants (14.8%) had recognized chromosomal and non-chromosomal syndromes. The more frequent non-urinary malformations were cardiac, digestive and limb anomalies. For each case a control was studied. The following features were assessed: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for risk factors. Weight, length and head circumference at birth were less than in the controls and the weight of the placenta was lower. Pregnancies with IUS anomalies were more often complicated by oligo-amnios and threatened abortions. Oligo-amnios was more frequent in pregnancies in which babies had multiple malformations and recognized syndromes with IUS anomalies. One child of every three with IUS anomalies had an extra-urinary malformation, which is 12 times the incidence of such malformation in our population. There was an increase in consanguinity in the parents of our patients. The incidence of IUS anomalies in first-degree relatives was 2.9%. First-degree relatives had more non-urinary malformations than controls (7.02 vs 3.2%). Our study demonstrated the high capacity of a general ultrasound screening programme to detect fetal malformations affecting the urinary tract.

Birth Weight↗

PubMed1990

Genetic and environmental factors in hypospadias.

A case control study of hypospadias was performed from 1979 to 1987 in Alsace, north-eastern France. A total of 176 out of 60 847 male infants had hypospadias giving a prevalence at birth of 2.89 per 1000 male newborns; 15.3% of all infants with hypospadias also had other malformations. Renal and urinary tract malformations were present in 37.0% of the infants with hypospadias and other additional malformations. None of the numerous aetiological factors which were studied was correlated with hypospadias except low weight of the placenta. The recurrence risk for brothers was 17.0% (an empirical risk of about 1 in 6) and the heritability coefficient was 56.9%. First degree relatives of infants with hypospadias had more malformations other than hypospadias than controls. These results have to be taken into consideration for genetic counselling.

Case-Control Studies↗

PubMed1990

[An epidemiological study of oligohydramnios associated with congenital malformations].

Our registry of congenital anomalies allows us to study systematically pregnancies which ended in the birth of a malformed child. Over 8 years 105,374 births were registered. A control was selected for each malformed baby. Numerous factors are studied. One of them is oligohydramnios. During the study period 199 children carriers of at least one congenital major malformation were born after a pregnancy complicated by oligohydramnios; which represent an incidence of 1.88%. Overall 2,787 malformed children were born during the study period, 7.14% of them were born after oligohydramnios (controls 1.6%, p less than 0.001). The malformations which were more often associated with oligohydramnios involved the urinary system (15.9%), the digestive system (10.2%), the genital system (5.9%) and the limbs (5.7%). A chromosomal aberrations was present in 11 infants (5.5%). Most of the isolated malformations were not associated with oligohydramnios, whereas the pregnancies which ended with the birth of a malformed baby were often complicated by oligohydramnios. Therefore when a fetal malformation is discovered during pregnancy the obstetrician should not be satisfied with the discovery of one anomaly associated with oligohydramnios. He (she) has to look carefully for other associated fetal malformations. The weight, the length and the head circumference at birth of the children born after oligohydramnios were less than those of the controls (p less than 0.001). The length of gestation was shorter (p less than 0.01). The weight of the placenta was smaller. In this study the only maternal factors which favoured the occurrence of oligohydramnios were diabetes and epilepsy.

Birth Weight↗

PubMed1990

[Oligo-elements of the amniotic fluid from normal, hypotrophic and trisomy 21 fetuses].

Oligo-elements concentrations were measured between 16-18 weeks of normal pregnancy in the amniotic fluid of 84 women who delivered children with a normal weight, 16 women who had term delivery of hypotrophic children, and 7 women who delivered trisomic children (5 trisomy 21, one trisomy 18 and one trisomy 10p). Copper, zinc, bromine, lead, rubidium assays were carried out using fluorescence X spectrophotometry with dispersion of energy. The oligo-elements levels are not different in the three groups of amniotic fluid: hypotrophic, trisomic or normal fetuses. These results are compared with those previously reported.

Adult↗

PubMed1990

[Maternal oligo-elements and fetal malformations].

Serum levels of zinc, copper, manganese, magnesium, folates and vitamin B12 and A, were titrated in the early stage of pregnancy in women who delivered children presenting malformations. These levels were compared with those of control patients who delivered normal children. There were 65 malformations. The most frequent were cardiac, musculo-skeletal, urogenital and chromosomal malformations. Only 2 cases of spina bifida were studied. The oligo-elements and vitamin levels are not different in both groups of women: those who carry malformed fetuses and those carrying normal fetuses. These results are compared with those from the literature.

Congenital Abnormalities↗

PubMed1989

Risk factors in congenital heart disease.

Risk factors were studied in 801 children with congenital heart disease (CHD) coming from 105,374 consecutive births of known outcome. The incidence of CHD was 7.60%. Diagnosis was performed in 66.5% of the cases during the perinatal period. Two-hundred-fifty seven of the cases also had at least one non-cardiac malformation (multiply malformed). Ninety-two cardiac infants (11.47%) had recognized chromosomal and non-chromosomal syndromes. The most frequent noncardiac malformations were renal, digestive and limb anomalies. For each case a control was studied. The following features were screened: sex ratio, parity and previous pregnancies, parental age, residency, education, ethnic origin, length, head circumference and weight at birth, genetic and environmental factors. Odds ratio values were calculated for the risk factors. Weight, length and head circumference at birth of cardiac infants were less than those of controls. The weight of placenta was also lower than in controls. The pregnancy with CHD was more often complicated by hydramnios and threatened abortions, except in infants with isolated CHD. Oliogoamnios was more frequent in pregnancies producing multiply malformed infants and those with recognized syndromes with CHD. One out of four children with CHD had an extracardiac malformation, which is ten times the rate of incidence of malformation in our population. The incidence of CHD in first degree relatives of these infants was 3.0%. These first degree relatives also had more non-cardiac malformations than did those of the controls.

Abnormalities, Multiple↗

PubMed1989

Acetylator phenotype and congenital malformations.

The hypothesis has been tested that an unusual maternal acetylator phenotype can predispose to congenital malformations in the fetus. The acetylator phenotype of normal caucasian control women and of mothers of malformed children was established by measuring urinary sulphadimidine and its acetylated metabolite. A further control group was the fathers of the malformed newborn. The malformations studied were facial-cleft, spina-bifida and congenital heart disease. The acetylator phenotype was shown not be modified by pregnancy. 49 of 100 (49%) control women were rapid acetylators. Amongst the 108 mothers of malformed babies, 56 (52.8%) were slow acetylators and 52 (47.2%) were fast acetylators, 42 out of 83 (50.5%) of the fathers of malformed were slow acetylators and 41 (49.5%) were fast acetylators. Thus, the acetylator phenotype of the mothers of malformed children is no different from the acetylator phenotype of controls.

Abnormalities, Multiple↗

PubMed1989

Birth prevalence rates of skeletal dysplasias.

This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population-based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15,000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 x 10(-5) per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias.

Cross-Sectional Studies↗